future family planning

There are a few common questions that Kyle and Jenna have been asked about Bryce’s condition, and I thought I’d share the answers to those here.

Q: Do Jenna and Kyle also have Krabbe Disease? A: No, Jenna and Kyle are both carriers of the mutated GALC gene that can cause Krabbe Disease when passed on to their children. (Genetics 101: We all have two copies of all of our genes — one from mom and one from dad. When you’re a “carrier,” it means you have one good copy and one bad copy.) For the GALC gene, you only need one good copy to be healthy since it creates enough of the GALC enzyme to maintain myelin in the brain.

It’s estimated that every 1 out of 125 people in the United States carries a mutated GALC gene. The likelihood of meeting someone with this same mutated gene is slim. Obviously, it does happen, as we know all too well.

There are hundreds (and probably thousands) of different mutations to this gene — and all of our genes, really. In order to help further the research about Krabbe, Kyle and Jenna underwent genetic counseling to determine their specific mutations: The version Kyle carries has been documented; the version Jenna carries has not. What this means for Bryce is that they don’t know how the disease will progress since these two versions together have never been seen.

An interesting fact: All of us likely carry five to 10 mutated gene that could cause disease. The breast cancer genes, BRCA1 and BRCA2, are examples that more people are probably familiar with: Mutations of these genes in carriers significantly increase the odds of breast and ovarian cancers.

Q: How did Bryce get Krabbe Disease? A: Krabbe Disease is an inherited disorder that is passed on in the “autosomal recessive manner” — meaning that both parents must have a mutated copy of the gene in order for the disease to present. Any of Kyle and Jenna’s children has a 25 percent chance of having Krabbe; a 50 percent chance of being a carrier; and a 25 percent chance of not being a carrier or having Krabbe.

Yes, there was a 75 percent chance that Bryce wouldn’t get it …

Q: Since the risk is 1/4, what are their plans for future children? A: Kyle and Jenna cannot fathom going through this again, yet they know they want to have more children — they love being parents to sweet Bryce. They are researching their options, and discussing them with the team in Pittsburgh and other families of Krabbe babies. The great news is that many of the families that Jenna and Kyle have connected with have been blessed with healthy children.

Q: What about other family members — are they carriers too? A: One of each of their parents is definitely a carrier of a mutated copy of the Krabbe gene (GALC) — something that’s likely been passed down for generations. Both sets of grandparents are planning to have genetic counseling to determine which sides of the family the mutated gene is from. Once we know those results, extended family members can decide if they want to get tested.

All of Jenna’s and Kyle’s siblings will also be getting tested to see if we’re carriers. If I, for instance, would test positive for the mutation (which would be the same as Jenna’s), then Brady will get tested. If he should also test positive (which is HIGHLY unlikely) we will immediately get our daughters tested. If not, then we’ll wait until they’re older to have them tested (it will be important that they know prior to having children of their own).

Q: How do you manage Bryce’s pain? A: Bryce is currently on three medications, which he gets during his feedings (every four hours or so):

Baclofen: To control muscle spasms and spasticity (tightness)

Gabapentin: To control nerve pain and seizures (they don’t think he’s having the latter yet).

Baby Ibuprofen: To prevent/control inflammation in the brain.

Do you have questions? Feel free to post them here and I’ll do my best to get them answered for you.

In the meantime, just a reminder that “The Sky Is Blue” Benefit for Bryce is this Saturday, March 1, at the Youth and Ag Building in Lancaster, Wis., from 3–8pm (please visit TheBStrongFund.org for more details). We’re looking forward to seeing many of you there, and know that those who can’t be there will be in spirit.

Thank you all for the continued prayers, love, and support. –Auntie Jamie